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For more information about research, please call our main office at 412-692-6438.
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The Division of Medical Genetics at UPMC Children's Hospital of Pittsburgh is committed to the treatment and study of genetic disorders in children, providing advanced patient care of the highest quality and an active research program dedicated to providing a deeper understanding of the fundamental issues underlying these disorders and developing better therapeutic approaches.
Clinical services, a critical part of the comprehensive care offered by the Division of Medical Genetics, include diagnosis, evaluation, treatment and management of a range of genetic conditions, such as birth defects, chromosomal abnormalities, specific genetic syndromes and inborn errors of metabolism. These services are organized under two programs: an Inborn Errors of Metabolism Clinic and a General Genetics Clinic. Both offer an experienced team of faculty and staff, including physician geneticists, genetic counselors, a nurse practitioner, metabolic dietitian and social worker.
We’re committed to nurturing the next generation of pediatric specialists.
Children’s is at the forefront of medical research and innovation.
Schedule an appointment or consultation with us at 412-692-5070.
The Inborn Errors of Metabolism Clinic at Children’s Hospital provides diagnostic services, evaluation, treatment management, genetic counseling and other support to children with these inherited disorders and to their families. A Phenylketonuria Clinic specializes in the diagnosis, treatment and management of one of the most common inborn errors of metabolism.
Counseling, education and other support services to address all of the needs of patients and their families are also provided. Genetic counselors are available to help to identify families at risk, serve as patient advocates, help families understand genetic disorders and their consequences, provide supportive counseling and counsel families who may be at risk for inherited conditions. Division staff members also help families arrange for physical, occupational and speech therapists, comprehensive developmental assessments and other services and support. Initial General Genetics Clinic appointment(s) must be held at UPMC Children's main campus in Pittsburgh. Follow-up appointments may be available via telemedicine at Children's Specialty Care Center Erie and Children's Specialty Care Center Johnstown.
Research within the division is providing new insight into genetic disorders from which new and better therapies can be developed. The laboratory research program focuses on discovering the underlying causes of genetic diseases, understanding the clinical implications of mutations in genes, and development of novel approaches for treatment of genetic disorders. An active clinical research program collaborates with other genetic programs world wide to evaluate new therapies for genetic disease.
Referrals from primary care physicians, medical and social agencies or other Children’s Hospital specialty services are helpful, but not necessary. Authorization from the patient’s insurance provider and/or primary care physician may be needed for insurance coverage. The Division of Medical Genetics staff can help with these matters. Medical records from previous medical evaluations may be requested. For more information, please call the office number listed.
Research Contact Registry for Members of the Amish and Mennonite Communities
Dietary Therapy for Inherited Disorders of Energy Metabolism
Laboratory Study of Acyl-CoA Dehydrogenases
Extension Study to Evaluate the Long-Term Safety and Efficacy of Migalastat Hydrochloride Monotherapy in Subjects with Fabry Disease
Study of the Safety and Efficacy of PRX-102 compared to Agalsidase Beta on Renal Function in Patients with Fabry Disease Previously Treated With Agalsidase Beta
Study of Elelyso™ (Taliglucerase Alfa) in Pediatric Subjects with Type 1 Gaucher Disease
Active Surveillance Taliglucerase Alfa Registry in Patients with Gaucher Disease
An Observational, International, Multi-center, Long-Term Registry of Patients with Gaucher Disease
Use of Whole Exome and Genome Sequencing to Identify New Genetic Disorders
Use of Whole Exome Sequencing/Whole Genome Sequencing in the Plain Communities
Short-term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia
Long-term Registry of Patients with Hypophosphatasia
Inborn Errors of Metabolism Information System (IBEM-IS)
DTI as a Tool to Identify Infants with Krabbe Disease in Need of Urgent Treatment
The Natural History of Infantile Globoid Cell Leukodystrophy
Extension Study in Subjects with Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Previously Enrolled in UX007 or Triheptanoin Studies
Investigation of the Common MELAS Mutation in the Northwestern Pennsylvania Amish Community: Mutation Frequency and Effectiveness of an Educational Intervention
Natural History Study of Children with Metachromatic Leukodystrophy
MaP: Mapping the Patient Journey in Methylmalonic and Propionic Acidemia, A Longitudinal, Exploratory, Natural History Study to Further Characterize and Describe the Signs and Symptoms of Patients with Organic Acidemias
Biochemical and Immunologic Characterization of Methylsterol Oxidase Deficiency
31P NMR Evaluation of ATP Production in Individuals With Mitochondrial Disease
Study of RTA 408 in the Treatment of Mitochondrial Myopathy (MOTOR)
A Global, Multi-Center, Long-Term, Observational Registry of Patients with Hunter Syndrome (Mucopolysaccharidosis Type II, MPS II)
Extension of Study HGT-HIT-045 Evaluating Long-Term Safety and Clinical Outcomes of Intrathecal Idursulfase-IT Administered in Conjunction with Intravenous Elaprase® in Pediatric Patients with Hunter Syndrome and Cognitive Impairment
Extension of Study HGT-HIT-094 Evaluating Long-Term Safety and Clinical Outcomes of Intrathecal Idursulfase Administered in Conjunction with Elaprase® in Patients with Hunter Syndrome and Cognitive Impairment
Morquio A Registry Study (MARS)
Mucopolysaccharidosis Type VI Clinical Surveillance Program
Longitudinal Investigation of Neurodegenerative Disorders in Children
Study in Adult Patients with Type I, III or IV Osteogenesis Imperfecta Treated With BPS804
Clinical and Basic Investigations into Phosphomannomutase Deficiency
PKUDOS - PKU Demographics, Outcomes, and Safety Registry
Burden of PAH Deficiency/PKU Among Adults: A Retrospective Chart Review and Cross-sectional Patient Survey
Developing Clinically Relevant Endpoints for Primary Mitochondrial Disorders: Biological and Clinical Biomarkers of Disease
Extension Trial to Characterize the Long-Term Safety and Tolerability of Subcutaneous Elamipretide in Subjects with Genetically Confirmed Primary Mitochondrial Disease
Chart Review of Patients Who Have the Amish/Mennonite Variant of Propionic Acidemia
Trial of Dichloroacetate in Pyruvate Dehydrogenase Complex Deficiency
Sjögren-Larsson Syndrome: A Longitudinal Study of Natural History, Clinical Variation, and Evaluation of Biochemical Markers
Long-Term Registry of Patients With Urea Cycle Disorders
Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:
UPMC Children’s Hospital of Pittsburgh
One Children’s Hospital Way
4401 Penn Ave.
Pittsburgh, PA 15224
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